Preimplantation genetic testing ( PGT ) encompasses.

• Preimplantation genetic screening (PGT - A) and
• Preimplantation genetic diagnosis (PGD).
• PGT - A improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth.
• PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos.
• PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos.

Please see the attached real time PGT - A & PGD Video

Preimplantation Genetic Screening And Preimplantation Genetic Diagnosis

Pre-implantation Genetic Screening (PGT - A) is a comprehensive chromosome screening that examines embryos for chromosomal abnormalities. All 23 chromosomes (22 autosomes plus X and Y) are examined to evaluate any gains or losses of chromosomes, also known as aneuploidy

PGT - A testing can have multiple benefits for individuals looking to have a child, including:

• The most common reason for recurrent implantation failure and early miscarriage is due to chromosome abnormalities.
• With the information gained from PGT - A testing, the number of embryos with an incorrect number and /or structure of chromosomes are not used for intra-uterine transfer and only those embryos with perfectly normal number and structure are used for intra-uterine transfer, thereby improving chances of conception and reducing chances of abortion after the successful conception.
• Thus, having known the chromosome status of each embryo typically increases the likelihood of achieving pregnancy with IVF
• Pre-implantation Genetic Diagnosis (PGD) is a laboratory procedure performed in conjunction with in vitro fertilization (IVF) that examines embryos to help detect genetic diseases.
• Families affected by almost any inherited disease can reduce the risk their embryos will suffer that genetic disorder by undergoing this genetic analysis for any disorder.
• Embryos that are found to carry defective genes are not used for intra-uterine transfer thereby averting the occurence of that genetic disease in the offspring.

Indications for Wiscott-Aldrich syndrome(WAS)

• 1.The procedure is particularly indicated for patients with children affected by Fanconi anaemia, β-thalassaemia, sickle cell anemia, Wiscott?Aldrich syndrome (WAS), X-linked adrenoleukodystrophy (X-ALD), X-linked hyper-IgM syndrome (HIGM), X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) and other similar disorders, that require a HLA-compatible HSC or bone marrow donor to be effectively treated.
• 2. The great difficulty in finding a HLA-matched donor, even among family members, led to the application of Wiscott-Aldrich syndrome(WAS) also for diseases such as acute lymphoid leukaemia (ALL), acute myeloid leukaemia (AML), or sporadic Diamond-Blackfan anemia (DBA).

Preimplantation genetic diagnosis involves the following steps:

• 3. First, a couple/few cells are microsurgically removed from the embryos, which are about 5 days developed. After this cell collection, the embryos are safely frozen.
• 4. The DNA of the cells is then evaluated to determine if the inheritance of a problematic gene is present in each embryo. This process takes at least one full week.
• 5. Once PGD has identified embryos free of genetic problems, the embryo(s) will be placed in the uterus (usually by an IVF procedure), and the wait for implantation and a positive pregnancy test begins.
• 6. Any additional embryos that are free of genetic problems are kept frozen for possible later use while embryos with the problematic gene(s) are destroyed. This testing process may take weeks

INSERT VIDEO OF PGT - A /PGD PROCEDURE

• 7. Indications for Wiscott-Aldrich syndrome(WAS)
• 8. The procedure is particularly indicated for patients with children affected by Fanconi anaemia, β-thalassaemia, sickle cell anemia, Wiscott?Aldrich syndrome (WAS), X-linked adrenoleukodystrophy (X-ALD), X-linked hyper-IgM syndrome (HIGM), X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) and other similar disorders, that require a HLA-compatible HSC or bone marrow donor to be effectively treated.